Canonical Allele Identifier: PA2580420073
Gene: ELP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2272259
ClinVar RCV Id: RCV004125976

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060561.3:p.Val362Ala
CA4694327
NM_018091.6:c.1085T>C